Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly

N. Kölble, J. Wisser, D. Babcock, C. Maslen, R. Huch, B. Steinmann

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed.

Original languageEnglish (US)
Pages (from-to)395-399
Number of pages5
JournalUltrasound in Obstetrics and Gynecology
Issue number4
StatePublished - 2002
Externally publishedYes


  • Congenital contractural arachnodactyly (CCA)
  • Fibrillin-2 (FBN2) gene
  • Prenatal diagnosis
  • Ultrasound

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Reproductive Medicine
  • Radiology Nuclear Medicine and imaging
  • Obstetrics and Gynecology


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